rs147692085
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_000430.4(PAFAH1B1):c.118-14T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00109 in 1,476,616 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_000430.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00428 AC: 651AN: 152188Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.00133 AC: 237AN: 178042Hom.: 1 AF XY: 0.00104 AC XY: 100AN XY: 95894
GnomAD4 exome AF: 0.000720 AC: 954AN: 1324310Hom.: 3 Cov.: 28 AF XY: 0.000680 AC XY: 445AN XY: 653948
GnomAD4 genome AF: 0.00429 AC: 654AN: 152306Hom.: 1 Cov.: 32 AF XY: 0.00393 AC XY: 293AN XY: 74472
ClinVar
Submissions by phenotype
not specified Benign:2
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This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at